Results 21 to 30 of about 184,063 (257)

Factors influencing cancer genetic somatic mutation test ordering by cancer physician

Journal of Translational Medicine, 2020
Background Clinical whole exome sequencing was introduced in an Australian centre in 2017, as an alternative to Sanger sequencing. We aimed to identify predictors of cancer physicians’ somatic mutation test ordering behaviour.
Anastassia Demeshko, David J. Pennisi, Sushil Narayan, Stacy W. Gray, Matthew A. Brown, Aideen M. McInerney-Leo   +5 more
doaj   +1 more source

Unified classification and risk-stratification in Acute Myeloid Leukemia

Nature Communications, 2022
Classification and risk-stratification for Acute Myeloid Leukemia (AML) at diagnosis are primarily based on cytogenetics and only a few gene mutations. Here, the authors study the genomic landscape of 3653 AML patients and characterize 16 non-overlapping
Yanis Tazi, Juan E. Arango-Ossa, Yangyu Zhou, Elsa Bernard, Ian Thomas, Amanda Gilkes, Sylvie Freeman, Yoann Pradat, Sean J. Johnson, Robert Hills, Richard Dillon, Max F. Levine, Daniel Leongamornlert, Adam Butler, Arnold Ganser, Lars Bullinger, Konstanze Döhner, Oliver Ottmann, Richard Adams, Hartmut Döhner, Peter J. Campbell, Alan K. Burnett, Michael Dennis, Nigel H. Russell, Sean M. Devlin, Brian J. P. Huntly, Elli Papaemmanuil   +26 more
doaj   +1 more source

COOBoostR: An Extreme Gradient Boosting-Based Tool for Robust Tissue or Cell-of-Origin Prediction of Tumors

Life, 2022
We present here COOBoostR, a computational method designed for the putative prediction of the tissue- or cell-of-origin of various cancer types. COOBoostR leverages regional somatic mutation density information and chromatin mark features to be applied ...
Sungmin Yang, Kyungsik Ha, Woojeung Song, Masashi Fujita, Kirsten Kübler, Paz Polak, Eiso Hiyama, Hidewaki Nakagawa, Hong-Gee Kim, Hwajin Lee   +9 more
doaj   +1 more source

A practical guide for mutational signature analysis in hematological malignancies

Nature Communications, 2019
Mutational signature analysis provides important information about the mutational processes underpinning different stages of tumorigenesis. Here, the authors compare publicly available signature extraction tools and suggest a framework for the generation
Francesco Maura, Andrea Degasperi, Ferran Nadeu, Daniel Leongamornlert, Helen Davies, Luiza Moore, Romina Royo, Bachisio Ziccheddu, Xose S. Puente, Herve Avet-Loiseau, Peter J. Campbell, Serena Nik-Zainal, Elias Campo, Nikhil Munshi, Niccolò Bolli   +14 more
doaj   +1 more source

A recurrent somatic missense mutation in GNAS gene identified in familial thyroid follicular cell carcinomas in German longhaired pointer dogs

BMC Genomics, 2022
Background We previously reported a familial thyroid follicular cell carcinoma (FCC) in a large number of Dutch German longhaired pointers and identified two deleterious germline mutations in the TPO gene associated with disease predisposition.
Yun Yu, Freek Manders, Guy C. M. Grinwis, Martien A. M. Groenen, Richard P. M. A. Crooijmans   +4 more
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Genomic landscape and chronological reconstruction of driver events in multiple myeloma

Nature Communications, 2019
Multiple myeloma evolves continuously. Here the authors chronologically reconstruct driver events in multiple myeloma, noting a limited repertoire of initiating driver events that shape the evolutionary trajectory of the disease.
Francesco Maura, Niccoló Bolli, Nicos Angelopoulos, Kevin J. Dawson, Daniel Leongamornlert, Inigo Martincorena, Thomas J. Mitchell, Anthony Fullam, Santiago Gonzalez, Raphael Szalat, Federico Abascal, Bernardo Rodriguez-Martin, Mehmet Kemal Samur, Dominik Glodzik, Marco Roncador, Mariateresa Fulciniti, Yu Tzu Tai, Stephane Minvielle, Florence Magrangeas, Philippe Moreau, Paolo Corradini, Kenneth C. Anderson, Jose M. C. Tubio, David C. Wedge, Moritz Gerstung, Hervé Avet-Loiseau, Nikhil Munshi, Peter J. Campbell   +27 more
doaj   +1 more source

MutEnricher: a flexible toolset for somatic mutation enrichment analysis of tumor whole genomes

BMC Bioinformatics, 2020
Background Analysis of somatic mutations from tumor whole exomes has fueled discovery of novel cancer driver genes. However, ~ 98% of the genome is non-coding and includes regulatory elements whose normal cellular functions can be disrupted by mutation ...
Anthony R. Soltis, Clifton L. Dalgard, Harvey B. Pollard, Matthew D. Wilkerson   +3 more
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Author Correction: A practical guide for mutational signature analysis in hematological malignancies

Nature Communications, 2019
An amendment to this paper has been published and can be accessed via a link at the top of the ...
Francesco Maura, Andrea Degasperi, Ferran Nadeu, Daniel Leongamornlert, Helen Davies, Luiza Moore, Romina Royo, Bachisio Ziccheddu, Xose S. Puente, Herve Avet-Loiseau, Peter J. Campbell, Serena Nik-Zainal, Elias Campo, Nikhil Munshi, Niccolò Bolli   +14 more
doaj   +1 more source

Effects of Somatic Mutations Are Associated with SNP in the Progression of Individual Acute Myeloid Leukemia Patient: The Two-Hit Theory Explains Inherited Predisposition to Pathogenesis [PDF]

Genomics & Informatics, 2013
This study evaluated the effects of somatic mutations and single nucleotide polymorphisms (SNPs) on disease progression and tried to verify the two-hit theory in cancer pathogenesis.
Soyoung Park, Youngil Koh, Sung-Soo Yoon
doaj   +1 more source

Functional analysis of germline ETV6 W380R mutation causing inherited thrombocytopenia and secondary acute lymphoblastic leukemia or essential thrombocythemia

Platelets, 2021
Germline mutations in ETV6 gene cause inherited thrombocytopenia with leukemia predisposition. Here, we report on functional validation of ETV6 W380R mutation segregating with thrombocytopenia in a family where two family members also suffered from acute
Katerina Stano Kozubik, Lenka Radova, Kamila Reblova, Michal Smida, Marketa Zaliova Kubricanova, Jiri Baloun, Michaela Pesova, Zuzana Vrzalova, Frantisek Folber, Sona Mejstrikova, Sarka Pospisilova, Michael Doubek   +11 more
doaj   +1 more source